Generom | Molecular Tests Ordered by Gene

Teste moleculare (Ordonate in functie de gena)

Analiza moleculara include analiza tuturor protein-coding sequences cu exceptia cazurilor specificate in coloana comentariilor.

Daca nu gasiti boala (sau gena) cara va intereseaza in lista cu ordinea alfabetica puteti cauta intreg tabelul cu Ctrl-F:

1. Tineti apasat pe tasta Ctrl si apoi apasati pe tasta F
2. Scrieti numele bolii (sau genei) care va intereseaza
3. Daca boala (gena) sint gasite vor apare in tabel cu negru

Informaţiile privind mutatiile si structura genomica a genelor pot fi gasite dind click pe Informatii privind mutatiilen.

A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

Gena	Gena OMIM	Boala	Boala OMIM	Comentariu
ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12)	607800	ICHTHYOSIS, LAMELLAR, 2, LI2 » LAMELLAR ICHTHYOSIS, TYPE 2 » ICHTHYOSIS CONGENITA 2B	601277	5 Exons: 28-32
ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12)	607800	ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE » HARLEQUIN ICHTHYOSIS	242500	Whole Gene
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6)	603234	PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE » GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL RECESSIVE)	264800	.
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6)	603234	PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL DOMINANT), PXE » GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL DOMINANT)	177850	.
ABCD1	300371	ADRENOLEUKODYSTROPHY, ALD » ADRENOMYELONEUROPATHY, AMN	300100	Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
ACAD8 (ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8)	604773	ISOBUTYRYL GLYCINURIA » ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY » ACAD8 DEFICIENCY	604773	.
ACADM	607008	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, MCAD	201450	Whole Gene or 1 Mutation: K329E
ACADS (ACYL-CoA DEHYDROGENASE, SHORT-CHAIN)	606885	D DEFICIENCY » SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY	201470	Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
ACADSB (ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN)	600301	2-ALPHA-METHYLBUTYRYLGLYCINURIA » 2-ALPHA-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY, MBD	600301	.
ACTA1 (ACTIN)	102610	ACTIN MYOPATHY	102610	.
		NEMALINE MYOPATHY (AUTOSOMAL DOMINANT), NEM1	161800	.
		NEMALINE MYOPATHY (AUTOSOMAL RECESSIVE), NEM2	256030	.
		MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	255310
ACTC (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN)	1002540	CARDIOMYOPATHY, DILATED		See ACTC, MYL2 and MYL3
	1002540	HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1 » VENTRICULAR HYPERTROPHY, HEREDITARY » ASYMMETRIC SEPTAL HYPERTROPHY » HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC	192600	See ACTC, MYL2 and MYL3
ACTC MYL2 MYL3		HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL » VENTRICULAR HYPERTROPHY, HEREDITARY » ASYMMETRIC SEPTAL HYPERTROPHY » HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC		19 Exons
ACVRLK1 (ACTIVIN A RECEPTOR, TYPE 2-LIKE KINASE 1)	601284	OSLER-RENDU-WEBER SYNDROME 2, ORW2 » TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HHT2 » HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION	600376	.
ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING PROTEASE)	604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL, TTP » SCHULMAN-UPSHAW SYNDROME	274150	.
ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING PROTEASE)	604134	HEMOLYTIC-UREMIC SYNDROME » COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1	235400	.
ADSL (ADENYLOSUCCINATE LYASE)	103050	ADENYLOSUCCINASE DEFICIENCY » SUCCINYLPURINEMIC AUTISM	103050	Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
AGXT (ALANINE-GLYOXYLATE AMINOTRANSFERASE, AGT, SERINE-PYRUVATE AMINOTRANSFERASE, SPT)	604285	HYPEROXALURIA, PRIMARY, TYPE 1 » OXALOSIS 1 » GLYCOLIC ACIDURIA » ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY » HEPATIC AGT DEFICIENCY » SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY	259900	Whole Gene or 3 Exons: 1, 4 and 7 (Including 33-34insC, 508A, 731C Mutations)
AIRE (AUTOIMMUNE REGULATOR)	607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1 » AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, APECED » AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1 » HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS » POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE	240300	Whole Gene or 2 Common Mutations: R257X and 1094DEL13
ALDOB (ALDOLASE B)	229600	FRUCTOSE INTOLERANCE » FRUCTOSEMIA » FRUCTOSE-1-PHOSPHATE » ALDOLASE B DEFICIENCY	229600	Whole Gene or 3 Common Mutations: A149P, A174D, N334K
ALMS1	606844	ALSTROM SYNDROME, ALMS	203800	Exons 10, 16, and part of Exon 8
ALOX12B (ARACHIDONATE 12-LIPOXYGENASE, R TYPE, 12R-@LIPOXYGENASE)	603741	ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL	242100
ALOXE3 (ARACHIDONATE LIPOXYGENASE 3, LIPOXYGENASE TYPE 3)	607206	ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL	242100
AMPD1 (AMP DEAMINASE)	102770	MYOADENYLATE DEAMINASE DEFICIENCY	102770	2 Mutations: Q12X, P48L
ANGELMAN	..	See UBE3A	.	.
ANTITRYPSINE	..	See PI	.	.
APC	175100	POLYPOSIS COLI, ADENOMATOUS » FAMILIAL ADENOMATOUS POLYPOSIS, FAP » ATTENUATED POLYPOSIS COLI	175100	.
APOA1 (APOLIPOPROTEIN A-1)	107680	HYPO-ALPHALIPOPROTEINEMIA	604091	L178P Mutation
APOB (APOLIPOPROTEIN B, APOB100, APOB48)	107730	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B » APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE	144010	2 Mutations: R3500Q and R3531C
		HYPERCHOLESTEROLEMIA	143890	3 mutations: R3500Q, R3500W, H3543Y
		HYPOBETALIPOPROTEINEMIA, FAMILIAL » ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE » FAMILIAL HYPOBETALIPOPROTEINEMIA » ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA	107730	Whole Gene
APOC2 (APOLIPOPROTEIN C2)	207750	HYPERCHYLOMICRONEMIA	207750	.
APOE (APOLIPOPROTEIN E)	107741	DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E » APOLIPOPROTEIN E DEFICIENCY » HYPERLIPOPROTEINEMIA, TYPE 3 » FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA » FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA	107741	3 mutations: R158C (APOE2), R136S (APOE CHRISTCHURCH), A106V (APOE BASEL)
APP	104760	ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1	104300	.
APP	104760	CEREBRAL AMYLOID ANGIOPATHY » AMYLOIDOSIS, CEREBROARTERIAL » AMYLOIDOSIS 6 » HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA » AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY	105150	.
AQP2 (AQUAPORIN 2)	107777	DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL RECESSIVE)	222000	.
AQP2 (AQUAPORIN 2)	107777	DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL DOMINANT)	125800	.
AR (ANDROGEN RECEPTOR)	313700	ANDROGEN INSENSITIVITY SYNDROME, AIS	300068	.
		REIFENSTEIN SYNDROME	312300	.
		HYPOSPADIAS (X-LINKED)	.	.
		KENNEDY DISEASE » SPINAL AND BULBAR MUSCULAR ATROPHY, SBMA	313200	Repeat
ARH	605747	HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH	603813	.
ARIX (ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG , PHOX2A)	602753	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE2, FEOM2, CFEOM2	602078	.
ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE)	607574	METACHROMATIC LEUKODYSTROPHY » SULFATIDE LIPIDOSIS » ARYLSULFATASE A DEFICIENCY	250100
ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE)	607574	PSEUDOARYLSULFATASE A DEFICIENCY	250100
ARSB (ARYLSULFATASE B, N-ACETYLGALACTOSAMINE-4-SULFATASE)	253200	MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6 » MAROTEAUX-LAMY SYNDROME » ARYLSULFATASE B DEFICIENCY » N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY	253200	.
ARSC1 (STEROID SULFATASE, STS)	308100	ICHTHYOSIS (X-LINKED) » STEROID SULFATASE DEFICIENCY	308100	Deletion
ARX	300382	INFANTILE SPASMS (X-LINKED), ISS X » WEST SYNDROME » EPILEPSY, INFANTILE SPASMS (X-LINKED)	308350	See also Mental Retardation Panel
		PARTINGTON SYNDROME, MRXS1 » MENTAL RETARDATION, PARTINGTON SYNDROME, MRXS1	309510
		LISSENCEPHALY WITH AMBIGUOUS GENITALIA (X-LINKED)	300215
		MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY (X-LINKED)	300432
		MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE54, MRX54	300412
ASPA (ASPARTOACYLASE)	271900	CANAVAN DISEASE » (See also Molecular Screening Tests)	271900	3 Mutations: E285A, A305E, Y231X
AT3 (SERPINC1)	107300	ANTITHROMBIN 3 DEFICIENCY » THROMBOPHILIA, HEREDITARY, DUE TO DEFICIENCY OF AT3	107300	.
ATM	607585	ATAXIA-TELANGIECTASIA, AT » LOUIS-BAR SYNDROME	208900	.
ATP1A2	182340	FAMILIAL PARAPLEGIC MIGRAINE TYPE 2	602481	2 Mutations: L764P and W887R
ATP2A2 (ATP2B, SERCA2)	108740	DARIER-WHITE DISEASE » KERATOSIS FOLLICULARIS » DARIER DISEASE	124200
ATP2A2 (ATP2B, SERCA2)	108740	ACROKERATOSIS VERRUCIFORMIS » HOPF DISEASE	101900
ATP2C1	604384	HAILEY-HAILEY DISEASE » PEMPHIGUS, BENIGN FAMILIAL	169600
ATP6V1B1 (ATP6B1 VACUOLAR PROTON PUMP, SUBUNIT 3, VPP3)	192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS	267300	.
ATP7A	300011	MENKES DISEASE » KINKY HAIR DISEASE	309400	.
ATP7A	300011	NEONATAL CUTIS LAXA » OCCIPITAL HORN SYNDROME	304150	.
ATP7B	606882	WILSON DISEASE » HEPATOLENTICULAR DEGENERATION	277900	Whole Gene or 1 Mutation: HIS1069GLN
ATP8B1 (FIC1)	602397	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC » SUMMERSKILL SYNDROME	243300	.
ATP8B1 (FIC1)	602397	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1 » BYLER DISEASE	211600
ATPV0A4 (ATP6N2 VACUOLAR PROTEIN PUMP, SUBUNIT 2, VPP	605239	RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE) » RENAL TUBULAR ACIDOSIS (AUTOSOMAL RECESSIVE) WITH PRESERVED HEARING » RENAL TUBULAR ACIDOSIS, DISTAL, (AUTOSOMAL RECESSIVE) WITH LATE-ONSET SENSORINEURAL HEARING LOSS	602722	.
ATROPHIN1	..	See DRPLA	.	.
ATRX (XNP)	300032	ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED) » ATR-X SYNDROME » XLMR-HYPOTONIC FACE SYNDROME » MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME	301040	Blood in RNA PAX tubes
		JUBERG-MARSIDI SYNDROME » MENTAL RETARDATION, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM (X-LINKED)	309590	Blood in RNA PAX tubes
		SMITH-FINEMAN-MYERS MENTAL RETARDATION SYNDROME » MENTAL RETARDATION, SMITH-FINEMAN-MYERS SYNDROME	309580	Blood in RNA PAX tubes
ATX1 (ATAXIN 1, SCA1, OPCA1)	601556	SPINOCEREBELLAR ATAXIA 1, SCA1	164400	See SCA1, SCA2, SCA3, SCA6, SCA7
ATX2 (ATAXIN 2, SCA2, OPCA2)	601517	SPINOCEREBELLAR ATAXIA 2, SCA2	183090	See SCA1, SCA2, SCA3, SCA6, SCA7
ATX3 (ATAXIN 3, SCA3)	607047	SPINOCEREBELLAR ATAXIA 3, SCA3 » MACHADO-JOSEPH DISEASE	109150	See SCA1, SCA2, SCA3, SCA6, SCA7
AUH (AU-SPECIFIC RNA-BINDING PROTEIN, 3-ALPHA-METHYLGLUTACONYL -CoA HYDRATASE)	600529	3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE 1 » 3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY	250950	.
AVPR2 (VASOPRESSIN RECEPTOR 2, ANTIDIURETIC HORMONE RECEPTOR)	304800	DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED)	304800	.
AZFa, AZFb and AZFc (including DAZ)	415000	AZOSPERMIA-OLIGOSPERMIA » SERTOLI-CELL-ONLY SYNDROME » MALE INFERTILITY	415000	Deletions

A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

Gena	Gena OMIM	Boala	Boala OMIM	Comentariu
BMPR1B (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB, ACTIVIN RECEPTOR-LIKE KINASE 6)	603248	BRACHYDACTYLY TYPE A2, BDA2 » BRACHYMESOPHALANGY 2 » MOHR - WRIEDT TYPE BRACHYDACTYLY	112600	.
BMPR2	600799	PRIMARY PULMONARY HYPERTENSION, PPH1	178600	.
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1)	164757	CARDIOFACIOCUTANEOUS SYNDROME, CFC	115150
		LYMPHOMA, NON-HODGKIN
		NONSMALL CELL LUNG CANCER, SOMATIC
		ADENOCARCINOMA OF LUNG, SOMATIC
		COLORECTAL CANCER, SOMATIC
		THYROID CARCINOMA, PAPILLARY, SOMATIC
		MELANOMA, MALIGNANT, SOMATIC
BRCA1	113705	BREAST AND OVARIAN CANCER	113705	Whole Gene (sequencing and MLPA)
BRCA1	113705	PROSTATE CANCER	176807	Whole Gene (sequencing and MLPA)
BRCA1 and BRCA2	..	BREAST AND OVARIAN CANCER	.	2 Whole Genes (sequencing and MLPA) or 6 Mutations: 185delAG, 5382insC, 1294del40, 4184del4, and C61G in BRCA1; 6174delT in BRCA2
BRCA1 and BRCA2	..	PROSTATE CANCER	176807	2 Whole Genes (sequencing and MLPA)
BRCA2	600185	BREAST AND OVARIAN CANCER	600185	Whole Gene (sequencing and MLPA)
BRCA2	600185	PROSTATE CANCER	176807	Whole Gene (sequencing and MLPA)
BSCL2 (SEIPIN)	606158	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 » BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2 » LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM » LIPOATROPHIC DIABETES, CONGENITAL » BRUNZELL SYNDROME	269700	2 Mutations: N88S, S90L
BSCL2 (SEIPIN)	606158	FAMILIAL SPASTIC PARAPLEGIA 17, SPG17 » SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET » SILVER SYNDROME » SILVER SPASTIC PARAPLEGIA SYNDROME » SPINAL MUSCULAR ATROPHY, DISTAL, TYPE 5, DSMA5	270685	2 Mutations: N88S, S90L
BTK (BRUTON TYROSINE KINASE, ATK, BPK)	300300	AGAMMAGLOBULINEMIA (X-LINKED), XLA » BRUTON AGAMMAGLOBULINEMIA » HYPOGAMMAGLOBULINEMIA (X-LINKED)	300300	.

A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

Gena	Gena OMIM	Boala	Boala OMIM	Comentariu
C1NH (C1 ESTERASE INHIBITOR, SERPING 1)	606860	ANGIOEDEMA » ANGIONEUROTIC EDEMA » QUINCKE EDEMA	106100	.
CA2 (CARBONIC ANHYDRASE 2)	259730	OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS » GUIBAUD - VAINSEL SYNDROME » CARBONIC ANHYDRASE 2 DEFICIENCY » MARBLE BRAIN DISEASE	259730	.
CACNA1A (SCA6)	601011	SPINOCEREBELLAR ATAXIA 6, SCA6	183086	See SCA1, SCA2, SCA3, SCA6, SCA7
CACNL1A3	114208	HYPOKALEMIC PERIODIC PARALYSIS, HOKPP	170400	Whole Gene or 3 Mutations: R528H, R1239H, R1239G
CACNL1A3	114208	MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5, MHS5	601887	.
CAPN3 (CALPAIN 3)	114240	LIMB GIRDLE MUSCULAR DYSTROPHY 2A, LGMD2A » MUSCULAR DYSTROPHY, LIMB GIRDLE MUSCULAR DYSTROPHY 2A, LGMD2A	253600	.
CASP8 (CASPASE 8, FLICE, MCH5)	601763	CASPASE 8 DEFICIENCY	607271
CASP8 (CASPASE 8, FLICE, MCH5)	601763	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B	601859
CASP10 (CASPASE 10, MCH4, CASP10B, FLICE2)	601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 2, ALPS2	603909
CASQ2 (CALSEQUESTRIN 2)	114251	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC » VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC	604772
CASR (CALCIUM-SENSING RECEPTOR, PCAR1)	601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1 » FAMILIAL BENIGN HYPERCALCEMIA 1	145980	..
		HYPOCALCEMIA (AUTOSOMAL DOMINANT)	601198	.
		NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM	239200	.
		HYPOPARATHYROIDISM, FAMILIAL ISOLATED	146200	.
CAT (CATALASE)	115500	ACATALASEMIA » ACATALASIA » CATALASE DEFICIENCY	115500	.
CAV3 (CAVEOLIN 3)	601253	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, LGMD -1C	607801	.
CAV3 (CAVEOLIN 3)	601253	RIPPLING MUSCLE DISEASE 2, RMD	606072	.
CCM1 (KREV INTERACTION TRAPPED 1, KRIT1)	604214	CEREBRAL CAVERNOUS MALFORMATIONS, CCM1 » CAVERNOUS ANGIOMA, FAMILIAL » HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS	116860	See also CCM1, CCM2 and PDCD10
CCM2 (CHROMOSOME 7 OPEN READING FRAME 22, C7ORF22,MALCAVERNIN, MGC4067)	607929	CEREBRAL CAVERNOUS MALFORMATIONS 2, CCM2	603284	See also CCM1, CCM2 and PDCD10
CCM1, CCM2 and PDCD10		CEREBRAL CAVERNOUS MALFORMATIONS, CCM	.	Analysis of 3 Genes
CCR5	601373	RESISTANCE TO HIV (HUMAN IMMUNODEFICIENCY VIRUS TYPE 1)	609423	1 Mutation: DEL32 BP
CBS (CYSTATHIONINE BETA-SYNTHASE)	236200	HOMOCYSTINURIA » CYSTATHIONINE BETA-SYNTHASE DEFICIENCY	236200	Whole Gene or Exons 4 and 8 (Including GLY307SER and ILE278THR)
CDK4	123829	MALIGNANT MELANOMA, CMM3	123829	.
CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9)	.	RETT SYNDROME, ATYPICAL	312750	.
		INFANTILE SPASMS (X-LINKED), ISS X » WEST SYNDROME » EPILEPSY, INFANTILE SPASMS (X-LINKED)	308350	.
		ANGELMAN SYNDROME, ATYPICAL	105830	.
CETP (CHOLESTERYL ESTER TRANSFER PROTEIN, LIPID TRANSFER PROTEIN 1)	118470	CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY » CETP DEFICIENCY	607322	.
CFTR	602421	CYSTIC FIBROSIS, CF	219700	Whole Gene or Mutations Kit or MLPA
CFTR	602421	CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD	277180<